rs147474549

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs147474549(C;T)

Make rs147474549(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

21

Position

43066294

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs147474549
dbSNP (classic)	rs147474549
ClinGen	rs147474549
ebi	rs147474549
HLI	rs147474549
Exac	rs147474549
Gnomad	rs147474549
Varsome	rs147474549
LitVar	rs147474549
Map	rs147474549
PheGenI	rs147474549
Biobank	rs147474549
1000 genomes	rs147474549
hgdp	rs147474549
ensembl	rs147474549
geneview	rs147474549
scholar	rs147474549
google	rs147474549
pharmgkb	rs147474549
gwascentral	rs147474549
openSNP	rs147474549
23andMe	rs147474549
SNPshot	rs147474549
SNPdbe	rs147474549
MSV3d	rs147474549
GWAS Ctlg	rs147474549

Max Magnitude

0

ClinVar
Risk	rs147474549(G;G) rs147474549(T;T)
Alt	rs147474549(G;G) rs147474549(T;T)
Reference	Rs147474549(C;C)
Significance	Probable-Pathogenic
Disease	not provided Homocystinuria due to CBS deficiency
Variation	info
Gene	CBSL CBS
CLNDBN	not provided Homocystinuria due to CBS deficiency
Reversed	0
HGVS	NC_000021.8:g.44486404C>T
CLNSRC
CLNACC	RCV000196511.1, RCV000469139.1,